Zobrazeno 1 - 2
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pro vyhledávání: '"Samantha R. Stover"'
Autor:
Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi
Publikováno v:
Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)
Abstract We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive
Externí odkaz:
https://doaj.org/article/051927d1f13244f69c11c6174e04afab
Autor:
Auda M. Plaud Gonzalez, Catherine Joseph, Samantha R. Stover, Ahmed Nassr, Chester J. Koh, Joseph R. Angelo, Michael C. Braun
Publikováno v:
Kidney360. 4:333-340
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a3044750f4a505188c97794bd8ce852
https://doi.org/10.34067/kid.0004782022
https://doi.org/10.34067/kid.0004782022